Canonical Allele Identifier: CA222837

Gene: MED12

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71127146C>T , CM000685.2:g.71127146C>T	GRCh38
NC_000023.10:g.70346996C>T , CM000685.1:g.70346996C>T	GRCh37
NC_000023.9:g.70263721C>T	NCBI36
NG_012808.1:g.13591C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005120.3:c.2849+14C>T MANE Select	NP_005111.2:n.2849+14C>T
ENST00000374080.8:c.2849+14C>T MANE Select	ENSP00000363193.3:n.2849+14C>T
NM_005120.2:c.2849+14C>T	NP_005111.2:n.2849+14C>T
ENST00000333646.10:c.2390+14C>T	ENSP00000333125.7:n.2390+14C>T
ENST00000333646.11:c.2729+14C>T	ENSP00000333125.8:n.2729+14C>T
ENST00000374080.7:c.2849+14C>T	ENSP00000363193.3:n.2849+14C>T
ENST00000374102.5:c.2849+14C>T	ENSP00000363215.1:n.2849+14C>T
ENST00000374102.6:c.2849+14C>T	ENSP00000363215.2:n.2849+14C>T
ENST00000462984.1:n.275+14C>T
ENST00000462984.2:n.1192C>T
ENST00000471663.5:n.388+14C>T
ENST00000686548.1:c.*2745+14C>T	ENSP00000509582.1:n.*2745+14C>T
ENST00000687382.1:c.2849+14C>T	ENSP00000510724.1:n.2849+14C>T
ENST00000688079.1:n.419+14C>T
ENST00000688663.1:c.2849+14C>T	ENSP00000509348.1:n.2849+14C>T
ENST00000689768.1:n.1459+14C>T
ENST00000690145.1:c.2849+14C>T	ENSP00000508818.1:n.2849+14C>T
ENST00000690242.1:c.2849+14C>T	ENSP00000510090.1:n.2849+14C>T
ENST00000690828.1:n.3005+14C>T
ENST00000691113.1:c.808C>T	ENSP00000509755.1:n.808C>T
ENST00000691426.1:n.1080+14C>T
ENST00000691468.1:c.2798+14C>T	ENSP00000509011.1:n.2798+14C>T
ENST00000692304.1:c.2849+14C>T	ENSP00000508427.1:n.2849+14C>T
ENST00000693324.1:c.2768+14C>T	ENSP00000508643.1:n.2768+14C>T
ENST00000693391.1:c.794+14C>T	ENSP00000509563.1:n.794+14C>T
XM_005262317.1:c.2849+14C>T	XP_005262374.1:n.2849+14C>T
XM_005262319.1:c.2849+14C>T	XP_005262376.1:n.2849+14C>T